A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989426



Internal ID19232237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:20931243..20937128hg38UCSC Ensembl
Outerchr18:18511204..18517089hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg385886
hg195886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135835
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989426
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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